Evaluation of the Ion Torrent™ HID SNP 169-plex: A SNP typing assay developed for human identification by second generation sequencing

Inter-laboratory evaluation of the EUROFORGEN Global ancestry-informative SNP panel by massively parallel sequencing using the Ion PGM™

“…Within the population sample sets a minimum value of 106x and a maximum of 1647x sequence coverage were obtained. This substantial variation in coverage across the Global AIM-SNPs is likely due to differing PCR amplification efficiencies within the 128-plex PCR and has been previously described for Ion PGM™ SNP panels of similar size [11,13,15]. Nevertheless, 95% of Global AIMSNPs (122/128) showed an average sequence coverage of more than 300x.…”

“…Massively parallel sequencing (MPS) has the capacity to greatly enhance forensic DNA analysis by providing accurate sequence data for hundreds of loci resulting in a marked increase in the information gained from a single DNA test [11][12][13][14][15]. Initial assessments of MPS indicate that sequence data with sufficiently high coverage and 4 reliable genotypes can be produced for most loci.…”

“…However, careful scrutiny of the sequence characteristics is required for each SNP chosen. Furthermore, the sequence data analysis systems of MPS platforms developed for forensic use are still not fully developed and their further optimization is necessary before any MPS multiplex can be introduced in the forensic field [11,13,16].…”

SNP-Based Fetal DNA Detection in Maternal Serum Using the HID-Ion AmpliSeq™ Identity Panel

“…Multiple studies have shown that heterozygote balance in a sample from a single heterozygous individual can range from 40%-60% [4,5,7,8]; however, it is not possible to define exact limits for homozygotes and heterozygotes in 1:1 mixtures. This is because the balance varies depending on the relative amounts of DNA from each individual and on whether the minor contributor is the homozygote or the heterozygote [5].…”

“…High-throughput nucleotide sequencing identification and has been evaluated for coverage, heterozygote balance, and sensitivity in multiple validation studies [4][5][6][7][8]. This panel can reliably provide genotype information given small amounts of template DNA, as well as allow quantitative analyses.…”